Canonical Allele Identifier: CA2062455102
Gene: MMAB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109568805G= , CM000674.2:g.109568805G= GRCh38
NC_000012.11:g.110006610G= , CM000674.1:g.110006610G= GRCh37
NC_000012.10:g.108490993G= NCBI36
NG_007096.1:g.9693C=
NG_007702.1:g.111G= , LRG_156:g.111G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000545712.7:c.255C= MANE Select ENSP00000445920.1:p.Ala85=
ENST00000420167.6:c.*84C= ENSP00000416136.2:n.*84C=
ENST00000503497.7:c.255C= ENSP00000474881.1:p.Ala85=
ENST00000536760.1:n.258C=
ENST00000537236.2:c.255C= ENSP00000483818.1:p.Ala85=
ENST00000537496.5:c.255C= ENSP00000444793.1:p.Ala85=
ENST00000540016.5:c.135-3629C= ENSP00000474582.1:n.135-3629C=
ENST00000541763.6:c.255C= ENSP00000474981.1:p.Ala85=
ENST00000542390.5:n.282C=
ENST00000544051.5:c.*49C= ENSP00000438079.1:n.*49C=
ENST00000545712.6:c.255C= ENSP00000445920.1:p.Ala85=
NM_052845.3:c.255C= NP_443077.1:p.Ala85=
NR_038118.1:n.328C=
XM_024448961.1:c.255C= XP_024304729.1:p.Ala85=
NM_052845.4:c.255C= MANE Select NP_443077.1:p.Ala85=
NR_038118.2:n.279C=